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Fig. 2 | Genome Biology

Fig. 2

From: Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Fig. 2

A novel PD syndrome is linked to a founder mutation in WDR4. a AutoSNPa showing the shared haplotype between individual II:2 in Family 1, Individual II:6 in Family 2 denoted by black lines (boxed in green lines). b illustration to the exome filtering scheme and the number of survived variants in each step in both c Sequence chromatograms of the mutation (control tracing is shown for comparison and the location of the mutation is denoted by an arrow) and its location indicated in WD repeat domain 4 on a schematic of WDR4. Also shown is the multisequence alignment of the mutated reside (p.Arg170) showing high conservation down to Danio rerio (boxed in green)

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